Details of Disease | DrugMAP

General Information of Disease (ID: DISWISXK)

Disease Name	Patterned macular dystrophy 3
Synonyms	macular dystrophy, patterned, 3; macular dystrophy, patterned, type 3; MAPKAPK3 patterned macular dystrophy; MDPT3; Martinique crinkled retinal pigment epitheliopathy; patterned macular dystrophy type 3; patterned macular dystrophy caused by mutation in MAPKAPK3; MCRPE
Definition	Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.
Disease Hierarchy	DISWIXVD: Patterned macular dystrophy DISWISXK: Patterned macular dystrophy 3
Disease Identifiers	MONDO ID MONDO_0014920 UMLS CUI C4310713 OMIM ID 617111 MedGen ID 934680 Orphanet ID 466718 SNOMED CT ID 1187639002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAPKAPK3	TTFS4VU	Strong	Autosomal dominant	[1]
MAPKAPK3	TTFS4VU	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAPKAPK3	OT7IWJNI	Strong	Autosomal dominant	[1]
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References

1	A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Hum Mol Genet. 2016 Mar 1;25(5):916-26. doi: 10.1093/hmg/ddv624. Epub 2016 Jan 6.